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DDG2P

Gene: COX18

Red List (low evidence)
COX18 (COX18, cytochrome c oxidase assembly factor)
EnsemblGeneIds (GRCh38): ENSG00000163626
EnsemblGeneIds (GRCh37): ENSG00000163626
OMIM: 610428, Gene2Phenotype
COX18 is in 6 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for COX18-related peripheral neuropathy are limited, biallelic_autosomal and loss of function (PMIDs: 37468577, 38960055, 39006432). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03567.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease COX18-related peripheral neuropathy is limited. The allelic requirement and mutation consequence are biallelic_autosomal and altered gene product structure (PMID: 38960055;39006432;37468577).
Created: 21 Feb 2025, 2:39 p.m. | Last Modified: 21 Feb 2025, 2:39 p.m.
Panel Version: 5.3

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
COX18-related peripheral neuropathy

Publications

Mode of pathogenicity
Other

Created: 21 Feb 2025, 2:39 p.m.
Last Modified: 21 Feb 2025, 2:39 p.m.
Panel version: 6.17

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • DD-Gene2Phenotype
  • Expert Review Red
Phenotypes
  • COX18-related peripheral neuropathy
OMIM
610428
Clinvar variants
Variants in COX18
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Feb 2026, Gel status: 1

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: COX18 was changed from Other to None

21 Feb 2025, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

gene: COX18 was added gene: COX18 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: COX18 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COX18 were set to 38960055; 37468577; 39006432 Phenotypes for gene: COX18 were set to COX18-related peripheral neuropathy Mode of pathogenicity for gene: COX18 was set to Other